CLRN1 Gene

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Vicky Zhou	+ 394 word(s)	394	2020-12-15 07:48:05

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Zhou, V. CLRN1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5171 (accessed on 22 September 2026).

Zhou V. CLRN1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5171. Accessed September 22, 2026.

Zhou, Vicky. "CLRN1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5171 (accessed September 22, 2026).

Zhou, V. (2020, December 24). CLRN1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5171

Zhou, Vicky. "CLRN1 Gene." Encyclopedia. Web. 24 December, 2020.

CLRN1 Gene

Edit

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/clrn1

clarin 1

genes

References

Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG,Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role insensory synapses. Eur J Hum Genet. 2002 Jun;10(6):339-50.
Aller E, Jaijo T, Oltra S, Alió J, Galán F, Nájera C, Beneyto M, Millán JM.Mutation screening of USH3 gene (clarin-1) in Spanish patients with Ushersyndrome: low prevalence and phenotypic variability. Clin Genet. 2004Dec;66(6):525-9.
Fields RR, Zhou G, Huang D, Davis JR, Möller C, Jacobson SG, Kimberling WJ,Sumegi J. Usher syndrome type III: revised genomic structure of the USH3 gene andidentification of novel mutations. Am J Hum Genet. 2002 Sep;71(3):607-17.
Geng R, Geller SF, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Jones SM,Wright CG, Melki S, Imanishi Y, Palczewski K, Alagramam KN, Flannery JG. Ushersyndrome IIIA gene clarin-1 is essential for hair cell function and associatedneural activation. Hum Mol Genet. 2009 Aug 1;18(15):2748-60. doi:10.1093/hmg/ddp210.
Geng R, Melki S, Chen DH, Tian G, Furness DN, Oshima-Takago T, Neef J, MoserT, Askew C, Horwitz G, Holt JR, Imanishi Y, Alagramam KN. The mechanosensorystructure of the hair cell requires clarin-1, a protein encoded by Usher syndromeIII causative gene. J Neurosci. 2012 Jul 11;32(28):9485-98. doi:10.1523/JNEUROSCI.0311-12.2012.
Isosomppi J, Västinsalo H, Geller SF, Heon E, Flannery JG, Sankila EM.Disease-causing mutations in the CLRN1 gene alter normal CLRN1 proteintrafficking to the plasma membrane. Mol Vis. 2009 Sep 8;15:1806-18.
Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am JHum Genet. 2001 Oct;69(4):673-84.2001 Nov;69(5):1160.
Khan MI, Kersten FF, Azam M, Collin RW, Hussain A, Shah ST, Keunen JE, Kremer H, Cremers FP, Qamar R, den Hollander AI. CLRN1 mutations cause nonsyndromicretinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi:10.1016/j.ophtha.2010.10.047.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vicky Zhou

View Times: 789

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

Video Upload Options

References